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GENATLAS PHENOTYPE
last update : 23/12/2008
Symbol RP43
Location 5q33.1
Name autosomal recessive retinitis pigmentosa 43
Corresponding gene PDE6A
Other symbol(s) ARRP6
Main clinical features
  • characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment
  • in the early stages, the fundus was characterized by a gray granular appearance in areas of focal thinning of retinal pigment epithelium, exposing the choroid
  • as the disorder progressed, these areas became confluent
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Gene product
    Name rod cGMP phosphodiesterase class VI, alpha subunit (PDE6A)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function Huang et al. 1995
    nonsense   abnormal protein/loss of function Huang et al. 1995
    Remark(s)